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Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome

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dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorDEMİRCİOĞLU, SERAP
dc.contributor.authorARMAN, AHMET
dc.contributor.authorsALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A.
dc.date.accessioned2023-04-04T08:31:10Z
dc.date.available2023-04-04T08:31:10Z
dc.date.issued2023-01-01
dc.description.abstractSchaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi Syndrome, joint contractures, and ASD were more commonly detected in in this syndrome. Recently, it was shown that truncating variants in the paternal allele of the MAGEL2 gene cause SHFYNG. Here, we present two patients diagnosed with SHFYNG syndrome having two different novel truncating variants in the MAGEL2 gene, one paternally inherited and one de novo. One patient had obesity, brachydactyly and dysmorphic features, and the other patient presented with contractures, severe hypotonia and early death. This is the first report of Turkish SHFYNG syndrome cases presented to emphasize the phenotypic diversity of the syndrome.
dc.identifier.citationALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A., "Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome", Clinical Genetics, 2023
dc.identifier.doi10.1111/cge.14320
dc.identifier.issn0009-9163
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150510477&origin=inward
dc.identifier.urihttps://hdl.handle.net/11424/288197
dc.language.isoeng
dc.relation.ispartofClinical Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSağlık Bilimleri
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectMedical Genetics
dc.subjectLife Sciences
dc.subjectMolecular Biology and Genetics
dc.subjectHealth Sciences
dc.subjectNatural Sciences
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE KALITIM
dc.subjectLife Sciences (LIFE)
dc.subjectMOLECULAR BIOLOGY & GENETICS
dc.subjectGENETICS & HEREDITY
dc.subjectGenetik
dc.subjectGenetik (klinik)
dc.subjectGenetics
dc.subjectGenetics (clinical)
dc.subjectMAGEL2
dc.subjectnovel
dc.subjectPrader-Willi-like syndrome
dc.subjectSchaaf-Yang syndrome
dc.subjectSHFYNG
dc.subjectMAGEL2
dc.subjectnovel
dc.subjectPrader-Willi-like syndrome
dc.subjectSchaaf-Yang syndrome
dc.subjectSHFYNG
dc.titleTwo new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome
dc.typearticle
dspace.entity.typePublication
local.avesis.id5f44a4a0-aa16-4229-b0ec-5607452d979b
local.indexed.atPUBMED
local.indexed.atSCOPUS
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